Canonical Allele Identifier: CA363775534

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35458442T>A , CM000668.2:g.35458442T>A	GRCh38
NC_000006.11:g.35426219T>A , CM000668.1:g.35426219T>A	GRCh37
NC_000006.10:g.35534197T>A	NCBI36
NG_011708.1:g.11082T>A , LRG_498:g.11082T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021922.3:c.1113+2T>A MANE Select	NP_068741.1:n.1113+2T>A
ENST00000229769.3:c.1113+2T>A MANE Select	ENSP00000229769.2:n.1113+2T>A
NM_021922.2:c.1113+2T>A , LRG_498t1:c.1113+2T>A	NP_068741.1:n.1113+2T>A
ENST00000229769.2:c.1113+2T>A	ENSP00000229769.2:n.1113+2T>A
ENST00000648059.1:c.1113+2T>A	ENSP00000497902.1:n.1113+2T>A
ENST00000696264.1:c.1113+2T>A	ENSP00000512511.1:n.1113+2T>A
ENST00000696265.1:c.1113+2T>A	ENSP00000512512.1:n.1113+2T>A
ENST00000696266.1:c.762+2T>A	ENSP00000512513.1:n.762+2T>A
ENST00000696267.1:n.1380+2T>A
XM_005248885.2:c.1092+2T>A	XP_005248942.1:n.1092+2T>A
XM_005248886.2:c.1044+2T>A	XP_005248943.1:n.1044+2T>A
XM_005248887.2:c.1113+2T>A	XP_005248944.1:n.1113+2T>A
XM_005248888.2:c.1113+2T>A	XP_005248945.1:n.1113+2T>A
XM_005248888.3:c.1113+2T>A	XP_005248945.1:n.1113+2T>A
XM_011514343.1:c.819+2T>A	XP_011512645.1:n.819+2T>A
XM_011514343.2:c.819+2T>A	XP_011512645.1:n.819+2T>A
XM_011514344.1:c.819+2T>A	XP_011512646.1:n.819+2T>A
XR_001743226.1:n.1320+2T>A
XR_002956267.1:n.1614+2T>A